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FLASH GENE
Symbol ABCA12 contributors: mct/npt - updated : 06-11-2009
HGNC name ATP-binding cassette, sub-family A (ABC1), member 12
HGNC id 14637
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
53 - 9112 293 2595 - Dean, Sakai (2007)
45 - 8097 - 2277 - Dean, Sakai (2007)
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
 stomach   highly
Respiratorylung    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ATP binding domains
  • two transmembrane domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Abca12
    intraspecies homolog to ABCA1
    Homologene
    FAMILY
  • ATP-binding cassette transporter family
  • ABCA subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • epidermal keratinocyte lipid transporter involved in cellular lipid trafficking in keratinocytes
  • may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces
  • plays an important role in lipid transport from the Golgi apparatus to lamellar granule in granular layer keratinocytes (Sakai 2007)
  • its activity is required for the generation of long-chain ceramide esters that are essential for the development of normal skin structure and function, and for the generation of a specific class of lipids that are essential to the formation of the epidermal permeability barrier (Zuo 2008)
  • plays a critical role in the formation of the skin's permeability barrier via an effect on the generation of a highly specialized class of ceramide esters (Zuo 2008)
  • cellular membrane transporter that facilitates the delivery of glucosylceramides to epidermal lamellar bodies in keratinocytes, a process that is critical for permeability barrier formation (Jiang 2009)
  • plays an important role in regulating gene expression and regulates epidermal proliferation, differentiation, and wound healing (Jiang 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
    cell & other
    REGULATION
    activated by ceramide (stimulates ABCA12 expression in keratinocytes via a mechanism involving PPARD signaling) (Jiang 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCI4A , HFCI , NCIE4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS